Author

Maddie Gillentine

Seattle Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anna LindstrandiD· 1 shared Bo YuaniD· 1 shared Claudia M.B. CarvalhoiD· 1 shared Haowei DuiD· 1 shared Jennifer Ellen PoseyiD· 1 shared Jesse D. BengtssoniD· 1 shared Lei YangiD· 1 shared Ming Yin Lun· 1 shared

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2025-2025 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Anna LindstrandORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 8, 2025

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

Ming Yin Lun, Jennifer Ellen Posey, Jesse D. Bengtsson…·Claudia M.B. Carvalho

The paper presents a scalable CNV analysis workflow applied to rare disease cohorts, identifying 39 candidate pathogenic SVs within 2 days using collaborative tools and databases.

DOI 10.1101/2025.08.08.25333317

humanwhole-genome sequencing